biostudies-otherUnknownJohnson JulieHomo sapienshttps://www.ebi.ac.uk/biostudies/studies/S-ECPF-GEOD-37210EurocanPlatformIdentification of novel, highly penetrant, breast cancer susceptibility genes will require the application of additional strategies beyond that of traditional linkage and candidate gene approaches. Approximately one-third of inherited genetic diseases, including breast cancer susceptibility, are caused by frameshift or nonsense mutations that truncate the protein product [1]. Transcripts harbouring premature termination codons are selectively and rapidly degraded by the nonsense-mediated mRNA decay (NMD) pathway. Blocking the NMD pathway in any given cell will stabilise these mutant transcripts, which can then be detected using gene expression microarrays. This technique, known as gene identification by nonsense-mediated mRNA decay inhibition (GINI), has proved successful in identifying spbiostudies-othertranscription profiling by arrayEurocanPlatformJohnson JulieChenevix-Trench GeorgiaWaddell NicfalseThe application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genesIdentification of novel, highly penetrant, breast cancer susceptibility genes will require the application of additional strategies beyond that of traditional linkage and candidate gene approaches. Approximately one-third of inherited genetic diseases, including breast cancer susceptibility, are caused by frameshift or nonsense mutations that truncate the protein product [1]. Transcripts harbouring premature termination codons are selectively and rapidly degraded by the nonsense-mediated mRNA decay (NMD) pathway. Blocking the NMD pathway in any given cell will stabilise these mutant transcripts, which can then be detected using gene expression microarrays. This technique, known as gene identification by nonsense-mediated mRNA decay inhibition (GINI), has proved successful in identifying sp2016-04-14T14:09:58Z2016-04-14T14:09:58Z2016-04-14T14:09:58ZS-ECPF-GEOD-37210GSE37210E-GEOD-37210EFO_0000305EFO_0000322E-GEOD-37210